Revel Score:
ENST00000260947 (MANE Select)
0.477
ENST00000449967
0.477
ENST00000421162
0.477
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752502G>A , CM000664.2:g.214752502G>A | GRCh38 |
| NC_000002.11:g.215617226G>A , CM000664.1:g.215617226G>A | GRCh37 |
| NC_000002.10:g.215325471G>A | NCBI36 |
| NG_012047.2:g.62203C>T | |
| NG_012047.3:g.62210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1622C>T MANE Select | ENSP00000260947.4:p.Ser541Leu | |
| ENST00000421162.2:c.269C>T | ENSP00000392245.2:p.Ser90Leu | |
| ENST00000613192.2:c.159-21994C>T | ENSP00000483275.2:n.159-21994C>T | |
| ENST00000613374.5:c.212C>T | ENSP00000484464.1:p.Ser71Leu | |
| ENST00000613706.5:c.1214C>T | ENSP00000484976.2:p.Ser405Leu | |
| ENST00000617164.5:c.1565C>T | ENSP00000480470.1:p.Ser522Leu | |
| ENST00000619009.5:c.365-21994C>T | ENSP00000482293.1:n.365-21994C>T | |
| ENST00000650978.1:c.2997C>T | ||
| ENST00000260947.8:c.1622C>T | ENSP00000260947.4:p.Ser541Leu | |
| ENST00000421162.1:c.269C>T | ENSP00000392245.1:p.Ser90Leu | |
| ENST00000455743.5:c.*1242C>T | ENSP00000412186.1:n.*1242C>T | |
| ENST00000613192.1:c.74-21994C>T | ENSP00000483275.1:n.74-21994C>T | |
| ENST00000613374.4:c.212C>T | ENSP00000484464.1:p.Ser71Leu | |
| ENST00000613706.4:c.269C>T | ENSP00000484976.1:p.Ser90Leu | |
| ENST00000617164.4:c.1565C>T | ENSP00000480470.1:p.Ser522Leu | |
| ENST00000619009.4:c.365-21994C>T | ENSP00000482293.1:n.365-21994C>T | |
| ENST00000620057.4:c.*288C>T | ENSP00000481988.1:n.*288C>T | |
| NM_000465.3:c.1622C>T | NP_000456.2:p.Ser541Leu | |
| NM_001282543.1:c.1565C>T | NP_001269472.1:p.Ser522Leu | |
| NM_001282545.1:c.269C>T | NP_001269474.1:p.Ser90Leu | |
| NM_001282548.1:c.212C>T | NP_001269477.1:p.Ser71Leu | |
| NM_001282549.1:c.365-21994C>T | NP_001269478.1:n.365-21994C>T | |
| NR_104212.1:n.1615C>T | ||
| NR_104215.1:n.1558C>T | ||
| NR_104216.1:n.814C>T | ||
| XM_011511567.1:c.1568C>T | XP_011509869.1:p.Ser523Leu | |
| XM_011511568.1:c.1622C>T | XP_011509870.1:p.Ser541Leu | |
| XM_017004613.1:c.1721C>T | XP_016860102.1:p.Ser574Leu | |
| XM_017004614.1:c.1721C>T | XP_016860103.1:p.Ser574Leu | |
| XR_002959322.1:n.1812C>T | ||
| NM_000465.4:c.1622C>T MANE Select | NP_000456.2:p.Ser541Leu | |
| NM_001282543.2:c.1565C>T | NP_001269472.1:p.Ser522Leu | |
| NM_001282545.2:c.269C>T | NP_001269474.1:p.Ser90Leu | |
| NM_001282548.2:c.212C>T | NP_001269477.1:p.Ser71Leu | |
| NM_001282549.2:c.365-21994C>T | NP_001269478.1:n.365-21994C>T | |
| NR_104212.2:n.1587C>T | ||
| NR_104215.2:n.1530C>T | ||
| NR_104216.2:n.786C>T |